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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HGSNAT
(G173D)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic
HGSNAT
(G262R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis
Gnot provided
HGSNAT
(R344C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 73
+4 more
GConflicting classifications of pathogenicity
HGSNAT
(S251C +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GUncertain significance
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