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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPS1
(H123D)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
Gnot provided
PRPS1
(Q133P)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
GPathogenic
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign/Likely benign
PRPS1
(L152P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRPS1
(Q277P +1 more)
Single nucleotide variant
(missense variant)
Arts syndrome
+1 more
GPathogenic
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