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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGQ
(R519P)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 77
GUncertain significance
PIGQ
(G558fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 77
GUncertain significance
PIGQ
(I359fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 77
GUncertain significance
PIGQ
(R338G)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
PIGQ
(S294P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
GUncertain significance
PIGQ
(L81fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 77
+1 more
GPathogenic/Likely pathogenic
PIGQ
(G449R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
GLikely pathogenic
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 77
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 77
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 77
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 77
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PIGQ
(G523S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
(T14A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+2 more
GBenign
PIGQ
(T168M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+1 more
GUncertain significance
PIGQ
(R206S)
Single nucleotide variant
(missense variant)
Epilepsy
GUncertain significance
PIGQ
(R527fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 77
GPathogenic
PIGQ
(R22Q)
Single nucleotide variant
(missense variant)
Epilepsy
+2 more
GUncertain significance
PIGQ
(V31M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PIGQ
(L323fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic
PIGQ
(A117V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+3 more
GLikely benign
PIGQ
Single nucleotide variant
(splice donor variant)
Epilepsy
+4 more
GPathogenic/Likely pathogenic
PIGQ
(Y400del)
Deletion
(inframe_deletion)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PIGQ
(R207*)
Single nucleotide variant
(nonsense)
Epilepsy
GPathogenic
PIGQ
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 77
GPathogenic
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