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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPS1
(E43D)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 5
GPathogenic
PRPS1
(D65N)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, X-linked 1
GPathogenic
PRPS1
(A82P)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, X-linked 1
Gnot provided
PRPS1
(A87T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
PRPS1
(M115T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely pathogenic
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
PRPS1
(I290T +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, X-linked 1
GPathogenic
PRPS1
(G306R +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, X-linked 1
GPathogenic
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