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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PQBP1
Single nucleotide variant
(intron variant)
History of neurodevelopmental disorder
+3 more
GBenign
PQBP1
(S77F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PQBP1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
PQBP1
Deletion
(inframe_deletion +1 more)
PQBP1-related condition
+3 more
GBenign/Likely benign
PQBP1
Deletion
(inframe_deletion +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PQBP1
(D150fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
PQBP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
PQBP1
(P188L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PQBP1
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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