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Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPX4
Duplication
not provided
GBenign
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
(R36fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
GPX4
(R37P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
(A40E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GPX4
(R43Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GPX4
(R44Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
GPX4
(P49S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GPX4
(R53L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
(I56M)
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
GPX4
(H57R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
(H57Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GPX4
(E58Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
(P65L)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(R5W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(R73C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
(R12H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
(H79R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(G88R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Deletion
(frameshift variant)
not provided
GLikely pathogenic
GPX4
(M26V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPX4
(L29P +2 more)
Single nucleotide variant
(missense variant)
GPX4-related disorder
+1 more
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
(G61S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(T67P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPX4
(T104S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(V57I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(D122H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPX4
(Y127* +2 more)
Single nucleotide variant
(nonsense)
Spondylometaphyseal dysplasia, Sedaghatian type
GPathogenic
GPX4
(R69Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(P101R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(N103D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Duplication
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(S112R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(E114K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPX4
(A93T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(A157V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
(G122fs +2 more)
Deletion
(frameshift variant)
Spondylometaphyseal dysplasia, Sedaghatian type
GLikely pathogenic
GPX4
(G159C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(D165G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(M102V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(S131G +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPX4
(K105N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
GPX4-related disorder
+1 more
GBenign/Likely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(G174R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(D138E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(D176N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Deletion
(nonsense)
Spondylometaphyseal dysplasia, Sedaghatian type
+1 more
GPathogenic/Likely pathogenic
GPX4
(K127N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Microsatellite
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Deletion
(intron variant)
Spondylometaphyseal dysplasia, Sedaghatian type
GPathogenic
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
(A133T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(K162E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
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