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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PQBP1
(R126fs +1 more)
Deletion
(frameshift variant +1 more)
Renpenning syndrome
GPathogenic
PQBP1
(R145del +1 more)
Deletion
(inframe_deletion +1 more)
Renpenning syndrome
GPathogenic
PQBP1
(Q141fs +4 more)
Deletion
(frameshift variant)
Renpenning syndrome
GLikely pathogenic
PQBP1
(R136H +1 more)
Single nucleotide variant
(missense variant +1 more)
Renpenning syndrome
GUncertain significance
PQBP1
(P70Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Renpenning syndrome
GLikely pathogenic
PQBP1
(K184fs +2 more)
Deletion
(frameshift variant +1 more)
Renpenning syndrome
GPathogenic
PQBP1
(S59fs)
Deletion
(frameshift variant +1 more)
Renpenning syndrome
GPathogenic
PQBP1
(R169H +2 more)
Single nucleotide variant
(missense variant +1 more)
PQBP1-related disorder
+1 more
GUncertain significance
PQBP1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PQBP1
(P148R +4 more)
Single nucleotide variant
(missense variant)
Renpenning syndrome
GUncertain significance
PQBP1, SLC35A2
(R114W +4 more)
Single nucleotide variant
(missense variant)
Renpenning syndrome
+1 more
GUncertain significance
PQBP1
(R129Q +4 more)
Single nucleotide variant
(missense variant)
Renpenning syndrome
GUncertain significance
LOC130068256, PQBP1
(L11S)
Single nucleotide variant
(missense variant)
Renpenning syndrome
GLikely pathogenic
PQBP1
(R105W +1 more)
Single nucleotide variant
(missense variant +1 more)
Renpenning syndrome
GUncertain significance
PQBP1
(R162W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PQBP1
(R118W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PQBP1
(R143Q +4 more)
Single nucleotide variant
(missense variant)
Renpenning syndrome
GUncertain significance
PQBP1
(R143W +4 more)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GLikely pathogenic
PQBP1
Single nucleotide variant
(intron variant)
Renpenning syndrome
GUncertain significance
PQBP1
(S208* +4 more)
Single nucleotide variant
(nonsense)
Renpenning syndrome
GLikely pathogenic
PQBP1
(R159W +1 more)
Single nucleotide variant
(missense variant +1 more)
Renpenning syndrome
+2 more
GUncertain significance
PQBP1
Single nucleotide variant
(synonymous variant)
Renpenning syndrome
GBenign
PQBP1
Single nucleotide variant
(3 prime UTR variant)
Renpenning syndrome
GUncertain significance
PQBP1
Single nucleotide variant
(3 prime UTR variant)
Renpenning syndrome
GBenign
PQBP1
Single nucleotide variant
(intron variant)
Renpenning syndrome
+1 more
GConflicting classifications of pathogenicity
PQBP1
Single nucleotide variant
(synonymous variant +1 more)
Renpenning syndrome
GBenign
PQBP1
(R147* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+1 more
GLikely pathogenic
PQBP1
(E100fs +4 more)
Microsatellite
(frameshift variant)
Renpenning syndrome
GPathogenic
PQBP1
(K262E +4 more)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+1 more
GUncertain significance
PQBP1
(R181W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PQBP1
(R133W +1 more)
Single nucleotide variant
(missense variant +1 more)
PQBP1-related disorder
+3 more
GConflicting classifications of pathogenicity
PQBP1
(R196* +4 more)
Single nucleotide variant
(nonsense)
PQBP1-related disorder
+2 more
GPathogenic/Likely pathogenic
PQBP1
(G215R +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PQBP1
Single nucleotide variant
(synonymous variant)
Renpenning syndrome
+2 more
GBenign/Likely benign
LOC130068256, PQBP1
Single nucleotide variant
(intron variant +1 more)
Renpenning syndrome
GBenign
LOC130068255, PQBP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Renpenning syndrome
GUncertain significance
PQBP1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
PQBP1
Single nucleotide variant
(intron variant)
History of neurodevelopmental disorder
+3 more
GBenign
PQBP1
(Y65C +1 more)
Single nucleotide variant
(missense variant)
Renpenning syndrome
GPathogenic
PQBP1
Deletion
(inframe_deletion +1 more)
not specified
+3 more
GBenign/Likely benign
PQBP1
(E183fs +2 more)
Deletion
(frameshift variant +1 more)
Renpenning syndrome
GPathogenic
PQBP1
(R114fs +4 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
PQBP1
(E154fs +1 more)
Microsatellite
(frameshift variant +1 more)
Renpenning syndrome
GPathogenic
PQBP1
(R145fs +1 more)
Microsatellite
(frameshift variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
PQBP1
(R147fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
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