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Links from MedGen

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPS1
(C60Y)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
GUncertain significance
PRPS1
(Y245H +1 more)
Single nucleotide variant
(missense variant)
Arts syndrome
GUncertain significance
PRPS1
(H123D)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
Gnot provided
PRPS1
(V112I)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+4 more
GUncertain significance
PRPS1
(R10Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(intron variant)
Arts syndrome
+5 more
GBenign/Likely benign
PRPS1
(R204H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hearing loss, X-linked 1
+4 more
GUncertain significance
PRPS1
(M77R +1 more)
Single nucleotide variant
(missense variant)
Arts syndrome
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Arts syndrome
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Arts syndrome
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Phosphoribosylpyrophosphate synthetase superactivity
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Phosphoribosylpyrophosphate synthetase superactivity
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Phosphoribosylpyrophosphate synthetase superactivity
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Phosphoribosylpyrophosphate synthetase superactivity
+2 more
GBenign
PRPS1
(P141L)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
GUncertain significance
PRPS1
Single nucleotide variant
(synonymous variant)
Phosphoribosylpyrophosphate synthetase superactivity
+3 more
GBenign/Likely benign
PRPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+7 more
GBenign/Likely benign
PRPS1
(R214W +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
PRPS1
Duplication
(intron variant)
Charcot-Marie-Tooth Neuropathy X
+5 more
GBenign/Likely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+7 more
GBenign/Likely benign
PRPS1
Duplication
(3 prime UTR variant)
Arts syndrome
+3 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Arts syndrome
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GBenign
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Phosphoribosylpyrophosphate synthetase superactivity
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GBenign
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Hearing loss, X-linked 1
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(3 prime UTR variant)
Phosphoribosylpyrophosphate synthetase superactivity
+2 more
GUncertain significance
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, X-linked 1
+5 more
GBenign/Likely benign
PRPS1
Deletion
Arts syndrome
+3 more
GLikely benign
PRPS1
(Q277P +1 more)
Single nucleotide variant
(missense variant)
Arts syndrome
+1 more
GPathogenic
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GBenign/Likely benign
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GBenign/Likely benign
PRPS1
(V142L)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
GPathogenic
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, X-linked 1
+6 more
GBenign/Likely benign
PRPS1
(Q133P)
Single nucleotide variant
(missense variant +1 more)
Arts syndrome
GPathogenic
PRPS1
(L152P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRPS1
(D183H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Arts syndrome
GLikely pathogenic
PRPS1
(N114S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely pathogenic
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