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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MNS1, TEX9
Single nucleotide variant
(3 prime UTR variant +3 more)
not provided
+1 more
GBenign
MNS1, TEX9
(R425H)
Single nucleotide variant
(missense variant +1 more)
MNS1-related disorder
GLikely benign
MNS1, TEX9
(R242*)
Single nucleotide variant
(nonsense +1 more)
MNS1-related disorder
+1 more
GPathogenic/Likely pathogenic
MNS1, TEX9
Single nucleotide variant
(intron variant)
MNS1-related disorder
GUncertain significance
MNS1, TEX9
(E78*)
Single nucleotide variant
(nonsense)
MNS1-related disorder
GLikely pathogenic
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