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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPS1
(I252N +1 more)
Single nucleotide variant
(missense variant)
Phosphoribosylpyrophosphate synthetase superactivity
GUncertain significance
PRPS1
(E43K)
Single nucleotide variant
(missense variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GLikely pathogenic
PRPS1
(V112I)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+4 more
GUncertain significance
PRPS1
(T166I)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
+1 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
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
(L145V)
Single nucleotide variant
(missense variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GLikely pathogenic
PRPS1
(G120V)
Single nucleotide variant
(missense variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GLikely pathogenic
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
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
Single nucleotide variant
(synonymous variant +1 more)
Hearing loss, X-linked 1
+6 more
GBenign/Likely benign
PRPS1
(H193Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GPathogenic
PRPS1
(A190V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GPathogenic
PRPS1
(L129I)
Single nucleotide variant
(missense variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GPathogenic
PRPS1
(D52H)
Single nucleotide variant
(missense variant +1 more)
Phosphoribosylpyrophosphate synthetase superactivity
GPathogenic
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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