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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGXT
(K12fs)
Duplication
(frameshift variant)
AGXT-related condition
+3 more
GPathogenic
AGXT
(P11L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
AGXT
(G41R)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria
+2 more
GPathogenic
AGXT
(G82E)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria
+2 more
GPathogenic/Likely pathogenic
AGXT
(F152I)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria
+2 more
GPathogenic
AGXT
(G156R)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria
+2 more
GPathogenic
AGXT
(G170R)
Single nucleotide variant
(missense variant)
AGXT-related condition
+3 more
GPathogenic/Likely pathogenic
AGXT
(S187F)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria
+1 more
GPathogenic/Likely pathogenic
AGXT
(S205P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AGXT
(R233C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AGXT
(I244T)
Single nucleotide variant
(missense variant)
AGXT-related condition
+3 more
GPathogenic
AGXT
(W246*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
AGXT
(I340M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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