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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAXE
(S43*)
Single nucleotide variant
(nonsense)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(R254C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NAXE
(Y180fs)
Duplication
(frameshift variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(W223*)
Single nucleotide variant
(nonsense)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GLikely pathogenic
NAXE
(Q77fs)
Deletion
(frameshift variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(L204P)
Single nucleotide variant
(missense variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GLikely pathogenic
NAXE
(G88W)
Single nucleotide variant
(missense variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
NAXE
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NAXE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NAXE
Single nucleotide variant
(synonymous variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
+1 more
GBenign
NAXE
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NAXE
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NAXE
(V19L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
NAXE
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NAXE
(K144Q)
Single nucleotide variant
(missense variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GUncertain significance
NAXE
(R129G)
Single nucleotide variant
(missense variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GUncertain significance
NAXE
(G189S)
Single nucleotide variant
(missense variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(T110fs)
Duplication
(frameshift variant)
NAXE-related disorder
+3 more
GConflicting classifications of pathogenicity
COL4A2
Single nucleotide variant
(intron variant)
Porencephaly 2
GUncertain significance
NAXE
(D218V)
Single nucleotide variant
(missense variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(A248fs)
Deletion
(frameshift variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(K270del)
Indel
(inframe_deletion)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
Single nucleotide variant
(splice donor variant)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(Q66*)
Single nucleotide variant
(nonsense)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
NAXE
(Y59*)
Single nucleotide variant
(nonsense)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GPathogenic
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